What is the recommended surveillance and management plan for individuals with Neurofibromatosis (NF)?

Surveillance and Management Plan for Neurofibromatosis (NF)

Individuals with neurofibromatosis require comprehensive, age-specific surveillance protocols focusing on early detection of tumors, with different approaches needed for NF1 versus NF2 due to their distinct tumor risks and manifestations. 1

Neurofibromatosis Type 1 (NF1) Surveillance

Pediatric Surveillance (Birth to 18 years)

• Ophthalmologic Assessment:

  • Annual comprehensive eye examination with visual acuity testing until age 8
  • Focus on detecting optic pathway gliomas (OPGs) which affect ~20% of NF1 patients and typically present before age 8 1
  • More frequent monitoring for children <2 years, females, and those with posterior optic tract involvement due to higher progression risk 1

• Neurologic Evaluation:

  • Biannual neurological examination to assess for signs of intracranial tumors
  • Brain MRI only when clinically indicated (not routine screening) 1
  • Monitor for headaches, visual changes, focal neurologic deficits

• Dermatologic/Tumor Surveillance:

  • Annual full skin and soft tissue examination
  • Document location, size, and characteristics of neurofibromas
  • Monitor plexiform neurofibromas (PNs) for rapid growth, pain, or neurologic symptoms 1
  • Assess for development of café-au-lait macules and skinfold freckling

• Orthopedic Assessment:

  • Annual screening for scoliosis and long bone abnormalities
  • Radiographic evaluation if clinical concerns arise

• Blood Pressure Monitoring:

  • Annual blood pressure measurement to screen for pheochromocytoma and renal artery stenosis

Adult Surveillance (>18 years)

• Continued dermatologic surveillance with focus on:

  • Changes in existing neurofibromas
  • Development of atypical neurofibromatous neoplasms (ANNUBP)
  • Signs of malignant peripheral nerve sheath tumors (MPNSTs) - rapid growth, pain, neurologic changes 1

• Breast Cancer Screening:

  • Annual mammography starting at age 30
  • Consider breast MRI alternating with mammography

• Blood Pressure Monitoring:

  • Annual screening for hypertension and pheochromocytoma

• Neurologic Assessment:

  • Annual neurologic examination
  • Imaging only when clinically indicated

Neurofibromatosis Type 2 (NF2) Surveillance

• Audiologic Evaluation:

  • Annual comprehensive hearing assessment
  • Monitor for vestibular schwannomas (bilateral in 95% of cases) 2

• Brain and Spine Imaging:

  • MRI of brain with contrast every 1-2 years
  • MRI of entire spine every 2-3 years
  • More frequent imaging if symptomatic lesions identified 3

• Ophthalmologic Assessment:

  • Annual eye examination for cataracts and retinal hamartomas

• Neurologic Evaluation:

  • Annual detailed neurologic examination
  • Monitor for signs of increased intracranial pressure, focal deficits

Special Considerations

Imaging Modalities

• MRI is preferred for tumor surveillance in both NF1 and NF2 3
• Whole-body MRI may be considered for baseline assessment in NF1 patients with multiple plexiform neurofibromas 3
• Advanced MRI techniques including diffusion-weighted imaging with ADC mapping can help differentiate benign from malignant lesions 3

Treatment Considerations

• MEK inhibitors (selumetinib) approved for symptomatic, inoperable plexiform neurofibromas in children ≥2 years 1
• Avoid radiation therapy when possible in NF1 due to increased risk of secondary malignancies 1
• Multidisciplinary care is essential, preferably at specialized NF clinics which are associated with better adherence to surveillance recommendations 4

Common Pitfalls to Avoid

1. Over-imaging asymptomatic NF1 patients - brain MRI is not recommended for routine surveillance without clinical indications 1

2. Misattributing symptoms to benign manifestations without considering malignant transformation - any rapid growth, new pain, or neurological changes warrant urgent evaluation 1

3. Failing to differentiate NF1 from Legius Syndrome - which has similar pigmentary findings but lacks tumor risks 1

4. Inadequate transition from pediatric to adult care - adult patients have lower rates of specialty clinic attendance and recommended surveillance 4

5. Overlooking psychosocial impact - address quality of life concerns and provide appropriate support services 5

By implementing these surveillance protocols, clinicians can optimize early detection of complications and improve outcomes for individuals with neurofibromatosis.